{Reference Type}: Case Reports
{Title}: [De novo blast phase of chronic myeloid leukemia with 3q26 abnormality diagnosed by cytogenetic analysis of extramedullary lesion].
{Author}: Matsunaga T;Naganuma K;Tabayashi T;Kawada T;Sakata N;Takahashi Y;Kimura Y;Anan T;Mitsuhashi T;Kubota Y;Sawada K;Yamashita T;Momose S;Higashi M;Tamaru JI;Kizaki M;
{Journal}: Rinsho Ketsueki
{Volume}: 63
{Issue}: 12
{Year}: 2022
暂无{DOI}: 10.11406/rinketsu.63.1643
{Abstract}: A 62-year-old woman was presented at our hospital with visual disturbance. An ocular examination revealed bilateral Roth spots. Laboratory data revealed leukocytosis (236,200 µl) with an excess blast (11%). Physical examination and computed tomography (CT) showed systemic lymphadenopathy. A bone marrow examination revealed a composition of 9.2% blast. Chromosomal analysis on bone marrow cells revealed 46,XX,t (3;12)(q26.2;p13),t (9;22)(q34.1;q11.2) in 80% of metaphases (16/20). Inguinal lymph node biopsy revealed diffuse proliferation of myeloperoxidase (MPO)-positive abnormal cells. Fluorescence in situ hybridization analysis was used to detect the BCR-ABL1 fusion gene and split the signals of MECOM and ETV6. She was diagnosed with de-novo chronic myeloid leukemia (CML) extramedullary blast crisis. She received tyrosine kinase inhibitor (TKI) combination chemotherapy and allogeneic hematopoietic stem cell transplantation and achieved a major molecular response. In this study, we reported a case of CML in blast-phase initially presenting as extramedullary, in which cytogenetic and molecular analyses were useful in the staging method.